NORD gratefully acknowledges Marco Castori, MD, Clinical Geneticist, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Rome, Italy, for assistance in the preparation of this report.
VACTERL association is a nonrandom association of birth defects that affects multiple median and para-median structures. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected children:
- (V) = (costo-) vertebral abnormalities
- (A) = anal atresia
- (C) = cardiac (heart) defects
- (TE) = tracheal-esophageal abnormalities, including atresia, stenosis and fistula
- (R) = renal (kidney) and radial abnormalities
- (L) = (non-radial) limb abnormalities
- (S) = single umbilical artery
Variability of such associations is wide and the relevance of each component usually varies by the observers. For this reason, from an original nucleus of "VATER" anomalies, the subsequent observation of an increased rate of heart malformations (C), non-radial limb anomalies (L) and single umbilical artery (S) expanded the phenotypic continuum grouping together all these conditions (i.e. VATER, VACTER, VACTERL and VACTERLS associations). At the moment, VACTERL association is the most frequently used term to define this condition. In addition, to the above mentioned features, affected children may also exhibit pre- and/or post-natal growth deficiency with failure to gain weight and grow at the expected rate (failure to thrive). Further low-frequency findings include facial asymmetry (hemifacialmicrosomia), external ear malformations, lung lobation defects, intestinal malrotation and genital anomalies. VATER/VACTERL features are more common in twinning. In some cases, the acronym VATER association is used. Mental functioning and intelligence is usually unaffected; developmental delay/mental retardation should suggest an alternative diagnosis. The cause of VACTERL association remains unknown in most cases and is likely heterogeneous. VACTERL association often occurs in a single individual in any given family (sporadic case).
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